Association between prothrombin gene polymorphisms and hereditary thrombophilia in Xinjiang Kazakhs population

• DOI: 10.1097/mbc.0b013e328364ba00
• Publication Date: 2013-10-25T12:21:41Z
• Authors: Xiao-hu Ge; Feng Zhu; Bing-lin Wang; Chang-min Wang; Bing Zhu; Sheng Guan; Hong-bo Ci; Li-mu Sai; Xiao-kui Jiang; Hao Ren; Qing-bo Fang; Guang-lei Tian
• Keywords: Linkage Disequilibrium; Kazakh; Protein C deficiency

To assess the association between polymorphisms of prothrombin gene and hereditary thrombophilia in Xinjiang Kazakhs population. Through cross-sectional investigation, permanent Kazakh population Ili Autonomous Prefecture was selected as study object to measure their antithrombin III (AT-III), protein C, S activity activated C resistance value, thus defining situation crowd's thrombophilia. Sequenom Massarray detection technology used conduct a genotype test six sites by case control groups. Haploview software perform linkage disequilibrium analysis sites, impact interaction genetic variations environment on researched use sum model. A total 1005 volunteers participated (332 men 673 women), average age (41.13 ± 11.50) years; prevalence 31.0%, AT-III deficiency, deficiency 16.4, 14.9, 20.6 7.8%, respectively. The difference allele frequency patient group at rs3136447 rs5896 statistically significant (P = 0.0483 P 0.0302, respectively). rs2070852 had high (r 0.99), constituted single-domain block 1. located region may be associated with There is additive interactive effect polymorphism (CT + TT) smoke